Glutamic--pyruvic transaminase 2 explained
Glutamic--pyruvic transaminase 2 is a protein that in humans is encoded by the GPT2 gene.[1]
Function
This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
Further reading
- Yang RZ, Blaileanu G, Hansen BC, Shuldiner AR, Gong DW . cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase . Genomics . 79 . 3 . 445–50 . March 2002 . 11863375 . 10.1006/geno.2002.6722 .
- Ding Y, Zhao L, Mei H, Huang ZH, Zhang SL . Alterations of biliary biochemical constituents and cytokines in infantile hepatitis syndrome . World J. Gastroenterol. . 12 . 43 . 7038–41 . November 2006 . 17109502 . 4087351 . 10.3748/wjg.v12.i43.7038 . free .
- Fraser A, Ebrahim S, Smith GD, Lawlor DA . A comparison of associations of alanine aminotransferase and gamma-glutamyltransferase with fasting glucose, fasting insulin, and glycated hemoglobin in women with and without diabetes . Hepatology . 46 . 1 . 158–65 . July 2007 . 17596883 . 10.1002/hep.21667 . 12779974 . free .
- Glinghammar B, Rafter I, Lindström AK, Hedberg JJ, Andersson HB, Lindblom P, Berg AL, Cotgreave I . Detection of the mitochondrial and catalytically active alanine aminotransferase in human tissues and plasma . Int. J. Mol. Med. . 23 . 5 . 621–31 . May 2009 . 19360321 . 10.3892/ijmm_00000173. free .
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ . Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression . PLOS ONE . 5 . 9 . e12862 . September 2010 . 20877624 . 2943476 . 10.1371/journal.pone.0012862 . 2010PLoSO...512862H . free .
- Salgado MC, Metón I, Anemaet IG, Baanante IV . Activating transcription factor 4 mediates up-regulation of alanine aminotransferase 2 gene expression under metabolic stress . Biochim. Biophys. Acta . 1839 . 4 . 288–96 . 2014 . 24418603 . 10.1016/j.bbagrm.2014.01.005 .
- Celis K, Shuldiner S, Haverfield EV, Cappell J, Yang R, Gong DW, Chung WK . Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy . J. Inherit. Metab. Dis. . 38 . 5 . 941–8 . September 2015 . 25758935 . 4919120 . 10.1007/s10545-015-9824-x .
Notes and References
- Web site: Entrez Gene: Glutamic--pyruvic transaminase 2. 2018-05-07.
